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265 Possible Causes for Brushfield Spot, Plasmalogen Decreased

  • Zellweger Syndrome

    We did not observe any Brushfield spots, any renal and brain cysts, or adrenal insufficiency.[ncbi.nlm.nih.gov] The plasmalogen content of erythrocytes was decreased. Morphologically distinct peroxisomes were absent in the liver.[ncbi.nlm.nih.gov] Clinical Features [ edit ] Craniofacial Features Flat occiput and face Anteverted nares Epicanthal folds Brushfield spots High forehead Large fontanels Shallow orbits Ocular[en.wikibooks.org]

  • Down Syndrome

    Brushfield's spots: Speckled iris. Little white spots that slightly elevated on the surface of the iris arranged in a ring concentric with the pupil.[medterms.com] Results: Ocular findings included nystagmus (29.2%), esotropia (26.1%), epiphora (21.5%), Brushfield spots (16.9%), lens opacities (12.3%), abnormalities of the retinal vessels[dx.doi.org] These spots occur in normal children but are far more frequent in Down's syndrome (trisomy 21).[medterms.com]

    Missing: Plasmalogen Decreased
  • Rhizomelic Chondrodysplasia Punctata Type 2

    The severity of the decreased plasmalogens corresponds with the severity of the disease and abnormalities seen on MRI of the brain.[physio-pedia.com] […] levels which are decreased.[jcnonweb.com] Patients with RCDP-1 show increased levels of phytanic acid and decreased levels of plasmalogen in the body.[spring8.or.jp]

    Missing: Brushfield Spot
  • Autosomal Dominant Chondrodysplasia Punctata

    spots -Hands & feet: brachdactyly, clinodactyly, transverse palmar crease -heart defects: ventricular septal defect (VSD), tetrology of fallot (TOF), AV canal -GI atresias[quizlet.com] The severity of the decreased plasmalogens corresponds with the severity of the disease and abnormalities seen on MRI of the brain.[physio-pedia.com] […] levels which are decreased.[jcnonweb.com]

  • Alzheimer Disease

    Accordingly, phosphatidylethanol plasmalogen was decreased in the frontal cortex of AD compared to age matched controls.[ncbi.nlm.nih.gov] Our findings elucidate that plasmalogens are decreased as a consequence of AD and regulated by APP processing under physiological conditions. 2011 The Authors.[ncbi.nlm.nih.gov] Alterations in APP dependent changes of AGPS expression result in reduced protein and plasmalogen levels.[ncbi.nlm.nih.gov]

    Missing: Brushfield Spot
  • High Myopia-Sensorineural Deafness Syndrome

    Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris).[tsbvi.edu] Ocular features include Brushfield's spots (small white spots on the periphery of the iris which are found sometimes in unaffected children).[patient.info]

    Missing: Plasmalogen Decreased
  • Oculopalatoskeletal Syndrome

    spots Fraser’s syndrome (219000) Cryptophthalmos, malformed lacrimal ducts, hypertelorism, blindness Glucose transport defect (606777) Abnormal paroxysmal eye movements;[clinicalgate.com] […] palpebral fissures, chorioretinal dystrophy, myopia, decreased visual acuity, optic atrophy Down syndrome (190685) Upslanting palpebral fissures, epicanthal folds, iris Brushfield[clinicalgate.com]

    Missing: Plasmalogen Decreased
  • Dementia

    […] in human serum positively correlate with high- density lipoprotein and decrease with aging.[doi.org] Chromatogr A 1218, 7713–7722. [50] Maeba R , Maeda T , Kinoshita M , Takao K , Takenaka H , Kusano J , Yoshimura N , Takeoka Y , Yasuda D , Okazaki T , Teramoto T (2007) Plasmalogens[doi.org]

    Missing: Brushfield Spot
  • Spastic Paraparesis-Deafness Syndrome

    ) spots overlying the iris of the eye.[diapedia.org] Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris).[tsbvi.edu] […] short stature, a small rounded head flattened posteriorly, broadening of the neck, slanting eyes, a flattened nose, small broad hands with a single palmar crease and white (Brushfield[diapedia.org]

    Missing: Plasmalogen Decreased
  • Glassblower's Cataract

    spots[quizlet.com] (75%)- often symmetrical and develop in late childhood: varied morphology b. chronic blepharitis, myopia, strabismus, keratoconus, anomalous optic disc vasculature, iris Brushfield[quizlet.com]

    Missing: Plasmalogen Decreased

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